I need help with a diagnosis. My family doctor is perplexed. I was born in the Ukraine and was diagnosed with a heart condition, a loud murmur, and heart insufficiencies. They wanted to operate when I became a bit older. They noticed a structural hole in the heart and something wrong with the cardiac muscles themselves. I came to the US when I was three and the murmur subsided and the structural abnormalities went away. An Echo and an ECG come back normal, despite my constant feelings of irregular heartbeats, pain, and quick/slow pace in the heart. I am an intelligent 20 year old that finds it difficult to even live due to the extreme fatigue. My doctor keeps telling me that I am in perfect health (tall, normal weight, etc). I have listed some of the symptoms I feel (or what matched the nearest to what I feel):
Photopsia (have had it since birth, although the pattern has changed, so I probably should see an optometrist)
Muscle weakness or no muscle
heart weakness (cardiomyopathy? irregular heartbeat (too slow, too fast, arrythmias), pain (sometimes fleeting, sometimes more intense, sometimes light, but everpresent)
hursitis (male pattern hair growth, literally)
abnormal cramps (especially induced by exercise which occurs mostly in the calves and abdomen)
lack of energy
feel better with rest (laying down helps the fatigue and the overall "heaviness" go away, but does not affect arrythmias )
feeling of suffocation and arrythmias with increase in temperature
excessive coughing/clearing of the throat
overly acidic stomach and a constant feeling of bloating and difficulty breathing, especially when tired
Sitting is difficult for over a few minutes (around 10 min) and requires periods of laying down or changing the way of sitting to a more horizontal position or more support of the upper body
dizziness to the point of losing balance when tired
lightheadedness and a feeling of a heavy head... supporting the head relieves the headache associated with a heavy head
frequent numbing of limbs
standing for prolonged periods of time gives the feeling of "lead legs"
an increase in lack of air and arrythmias during and prior to menstruation
abnormal stretchmarks around hips and slightly purplish on the outer breasts
(not fat, or rapid changes in weight)
A very pale upper lip during exercise
nausea and loss of appetite, especially when tired
cardio exercise induces a sleep-like phase, where my body literally FEELS asleep but I am awake (right after the exercise)
prone to infections, (skin, sinus problems, yeast, etc)
I want a diagnosis so I can know what to do about it and to ultimately do the things I want to do. I have stopped exercising (I never did heavy exercise to begin with, just light walks) and have noticed improvement in energy levels.
Any ideas? I have been considering Marfan Disease, too much cortisol... I don't know, but to me it seems like a systemic disease that could affect the heart, the nervous system, sleep, headaches, spinal cord, energy levels? Is there anything like that?
Also, my Echo did find something, but it was still in the realms of normal. It was something along the lines of low pressure in the tricuspid valve, but I can't remember anymore so I do not want to lie or mislead anyone.
I tried beta-blockers, but it gave me a new symptom. It would make my head go numb during sleep. I would find myself in a state of half-consciousness.... I would feel like I am electric shocked, but I cannot think or move.. then I gradually regain my senses along with a feeling of fear and the tingling sensation of blood coming back to my head. I would feel the tingling sensation especially on the back of my cranium. It was a frightening event that immediately came with the usage of beta-blockers. It began to get more frequent until I stopped using it. I was disillusioned with my family doctor for just trying out meds on me without diagnosing first--I'm not a guinea pig, don't kill me!!
I also have to sleep in weird positions to alleviate discomforts.
Please help me!! I am losing hope in all of medicine and in myself as well.
I still have a few questions:
What is your genetic history? family history?
Are you nearsighted? Do you have astigmatism?
Explain your experience in sports and the numbing of your limbs, and any other discomfort you feel. I am a med student who has encountered a genetic connective tissue disorder in a patient recently and am wondering whether you have it also. 8-|
I sincerely hope an answer is found. Good luck! Diagnoses have a high error of being incorrect and even when correct, the treatment is disputable. Especially in the genetic disorders, since many are rather new and treatments have not been developed (especially, the rarer diseases). But don't worry if it is Marfan's; Michael Phelps has it too! The difference is whatever you have affects your daily activities and that is a more serious issue.
A lot of your symptoms seem to fall under the cardiovascular disease, however, you also have related health problems that may pinpoint a something specific.
Thanks for the detailed information though!
Someone gave me a thumbs down! :( sooo mean.
Anyway, lots of questions to answer!
- -mother--hypothyroidism, diabetes (i don't think it is the autoimmune one), high cholesterol, arthritis
-father--heart condition (hole in the heart and he had rheumatism, or the stuff that affects the heart), high cholesterol
-grandfather (dad's side)- heart, kidney, prostate tumors, and I don't know much about him; grandfather on the mom's side died at like 40/50, just collapsed dead (it was in UA so proper investigative procedures weren't used)... he broke a window when he went down!!!
-both grandmothers-- died from breast cancer
-one sister with hypothyroidism
-one sister with scoliosis
-acid reflux runs in the family, as well as hursitis (my mother developed it later in life, my sisters seem to have a mild case (a few coarse ones here and there), but I have gotten mine since my first ones during puberty)
-possible early developmental disorders (out of 9 kids, which my parents had, most never moved when layed on the stomach. They would just walk when they were old enough; no crawling around, etc. I don't know if I was one of them bc my mom doesn't remember. She thought it was normal bc we eventually grew out of it and the doctors weren't concerned.)
-no obvious disorders that are noticeable such as down's syndrome, or anything that would affect the appearance.
- -I am nearsighted (it's when you can't see far away, right?)
-Astigmatism? I don't know. There is a high possibility. I will ask when I go to the optometrist on the next visit, but I do seem to see more of a vertical blur.
In my family there are some eye issues. Both my sister (poor night vision, halos around lights and seeing multiple lights instead of one, long time to adjust between light and darkness and vice versa) and one of my brothers (sometimes has blurry vision, I'm thinking maybe he has a lens issue.... I told him about Marfan's so I hope he will look into that with his doctor. He is tall, muscular, very long arms and fingers, and kind of a narrow face...I did some reading about Marfan's after you mentioned Michael Phelps :) ), and both have perfect acuity or vision. My parents both have trouble seeing close up and my dad wears bifocals, but that is probably due to age (they are in their early 50s)
I feel nimble and agile with quick reflexes and good aim, so I do very well in sports, especially ones that require strategy. I also have the tall and slender-ish body build, which helps in a lot of sports. However, I cannot run for long periods of time. I can never put in a lot of effort or exert myself. In soccer I would run smoothly and at a comfortable pace, with smooth movements. I find that I tire quickly from any physical activity, or even sitting. I love sports but I tend to play racket sports, catch, shooting baskets, walks and other activities that I have the upper hand by letting myself rest in between shots/hits, going at a constant pace and great technique/strategy. I can't have anyone chasing me or else I tire soon. I get really bad cramping in the calves and abdomen if the workout becomes a cardio workout (higher bpm). I have trouble with strength and stamina, so I could never join a sports team despite my athletic skills and how much I enjoy it. <3 I focus more on music than physical activity due to these issues. But music is difficult too due to breathing and sitting that is required in singing, playing the piano and the flute and sitting at lessons. I absolutely HATE sitting.
- I can't sleep with my hands above the shoulders or the go numb. A pillow on the curve of my neck, or my head goes numb. I don't numb as much as I used to though. My earliest memories are from standing in church and having my feet go numb. I always had to shift my feet to get rid of the tingling, needle sensations. Is it possible for your feet to go numb while standing?! I don't stand anymore so I don't know if I get that. I also cannot sit on my knees for an unknown discomfort and keeping my body upright while on the knees in an upright position, I have trouble supporting my back. But that issue seems to have gotten better also. I can support my back with less effort now.
Here's maybe some more odd info about me that may help:
I have this feeling of anxiety or nervousness, despite not under stress or anything. I get it a lot (in church, at work, etc.). Mentally I am fine, but physically I am clammy, tense, sweaty, short of breath (as if I cannot take in as much air as I want to through my abdomen). I even sweat like crazy when it is cold (on the underarms, hands and feet).
- I would really appreciate if ANYONE can help me! Or if they experienced any combination of the symptoms I mentioned above and what they were diagnosed with! I may have multiple conditions or a systemic one, I don't know, so ANY input will be greatly appreciated!
You may want to look up Raynaud's for your numbing...